Focal facial dermal dysplasia

Focal Facial Dermal Dysplasia (pronounced: fo·cal fa·cial der·mal dys·pla·sia) is a rare genetic disorder that affects the development and growth of the skin, particularly on the face.

Etymology

The term "Focal Facial Dermal Dysplasia" is derived from the Latin words 'focalis' meaning 'center', 'facialis' meaning 'of the face', 'dermalis' meaning 'of the skin', and 'dysplasia' meaning 'abnormal growth or development'.

Definition

Focal Facial Dermal Dysplasia is characterized by developmental abnormalities of the skin, which are usually present at birth. These abnormalities typically occur in specific areas on the face, such as the scalp, cheeks, and chin. The most common features include scar-like lesions, hair loss, and underdeveloped areas of skin.

Symptoms

The symptoms of Focal Facial Dermal Dysplasia vary widely among affected individuals. Some common symptoms include:

• Scar-like lesions on the face
• Hair loss or thinning hair in certain areas of the face
• Underdeveloped areas of skin, often appearing as patches of thin or missing skin

Causes

Focal Facial Dermal Dysplasia is caused by mutations in the TWIST2 gene. This gene provides instructions for making a protein that is involved in the development of the skin and other tissues. Mutations in the TWIST2 gene disrupt the normal development of these tissues, leading to the characteristic features of Focal Facial Dermal Dysplasia.

Treatment

There is currently no cure for Focal Facial Dermal Dysplasia. Treatment is symptomatic and supportive, and may include surgical correction of the facial abnormalities.

Related Terms

• Genetic disorder
• Skin disorder
• TWIST2 gene

External links

• Medical encyclopedia article on Focal facial dermal dysplasia
• Wikipedia's article - Focal facial dermal dysplasia

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